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GC GC, vitamin D binding protein [ Homo sapiens (human) ]

Gene ID: 2638, updated on 7-Dec-2018

Summary

Official Symbol
GCprovided by HGNC
Official Full Name
GC, vitamin D binding proteinprovided by HGNC
Primary source
HGNC:HGNC:4187
See related
Ensembl:ENSG00000145321 MIM:139200
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DBP; VDB; GRD3; VDBG; VDBP; GcMAF; DBP/GC; Gc-MAF; DBP-maf; HEL-S-51
Summary
The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Expression
Restricted expression toward liver (RPKM 1264.0) See more
Orthologs

Genomic context

Location:
4q13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (71741693..71805520, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (72607410..72671237, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986285 Neighboring gene uncharacterized LOC105377271 Neighboring gene RNA, 5S ribosomal pseudogene 163 Neighboring gene neuropeptide FF receptor 2 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.
NHGRI GWA Catalog
Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
NHGRI GWA Catalog
Genome-wide association analysis of circulating vitamin D levels in children with asthma.
NHGRI GWA Catalog
Genome-wide association study of circulating vitamin D levels.
NHGRI GWA Catalog
Genome-wide association study of circulating vitamin D-binding protein.
NHGRI GWA Catalog
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Vitamin D (calciferol) metabolism, organism-specific biosystem (from REACTOME)
    Vitamin D (calciferol) metabolism, organism-specific biosystemVitamin D3 (cholecalciferol) is a steroid hormone that plays a role in regulating calcium and bone metabolism. It is obtained from the diet and produced in the skin by photolysis of 7-dehydrocholeste...
  • Vitamin D Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin D Metabolism, organism-specific biosystemPhotochemical synthesis of vitamin D3 (cholecalciferol, D3) occurs cutaneously where pro-vitamin D3 (7-dehydrocholesterol) is converted to pre-vitamin D3 (pre-D3) in response to ultraviolet B (sunlig...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcidiol binding IDA
Inferred from Direct Assay
more info
PubMed 
vitamin D binding TAS
Traceable Author Statement
more info
PubMed 
vitamin transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
vitamin D metabolic process TAS
Traceable Author Statement
more info
 
vitamin transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
vitamin transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
vitamin D-binding protein
Names
epididymis secretory protein Li 51
gc protein-derived macrophage activating factor
gc-globulin
group-specific component (vitamin D binding protein)
vitamin D-binding alpha-globulin
vitamin D-binding protein-macrophage activating factor
NP_000574.2
NP_001191235.1
NP_001191236.1
XP_006714240.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012837.2 RefSeqGene

    Range
    26159..68828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000583.4NP_000574.2  vitamin D-binding protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_000574.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is a predominant transcript. This variant and variant 2 encode the same isoform (1).
    Source sequence(s)
    AA702473, AK223458, X03178
    Consensus CDS
    CCDS3550.1
    UniProtKB/Swiss-Prot
    P02774
    Related
    ENSP00000273951.8, ENST00000273951.12
    Conserved Domains (2) summary
    smart00103
    Location:19201
    ALBUMIN; serum albumin
    pfam09164
    Location:405469
    VitD-bind_III; Vitamin D binding protein, domain III
  2. NM_001204306.1NP_001191235.1  vitamin D-binding protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_001191235.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same isoform 1, as compared to variant 1.
    Source sequence(s)
    AA702473, AK223458
    Consensus CDS
    CCDS3550.1
    UniProtKB/Swiss-Prot
    P02774
    Conserved Domains (2) summary
    smart00103
    Location:19201
    ALBUMIN; serum albumin
    pfam09164
    Location:405469
    VitD-bind_III; Vitamin D binding protein, domain III
  3. NM_001204307.1NP_001191236.1  vitamin D-binding protein isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' sequence which contains an upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a longer N-terminus, as compared to isoform 1.
    Source sequence(s)
    AA702473, AC024722, AK223458, AK309595, AK315853
    Consensus CDS
    CCDS56332.1
    UniProtKB/Swiss-Prot
    P02774
    Related
    ENSP00000421725.1, ENST00000504199.5
    Conserved Domains (2) summary
    smart00103
    Location:38220
    ALBUMIN; serum albumin
    pfam09164
    Location:424488
    VitD-bind_III; Vitamin D binding protein, domain III

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    71741693..71805520 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714177.3XP_006714240.1  vitamin D-binding protein isoform X1

    Related
    ENSP00000422664.1, ENST00000509740.5
    Conserved Domains (2) summary
    smart00103
    Location:19201
    ALBUMIN; serum albumin
    pfam09164
    Location:405422
    VitD-bind_III; Vitamin D binding protein, domain III
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